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Enrolling by Invitation

NCT Number: NCT03102554

Genetics of Differences of Sex Development and Hypospadias

This study seeks to identify genetic causes of conditions that affect the gonads and genitals, and to study the impact on families of receiving genetic results.

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Key information

Conditions

Disorders of Sex Development Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genital Diseases Genital Diseases, Male Gonadal Disorders Hypospadias Male Urogenital Diseases Penile Diseases Urogenital Abnormalities Urogenital Diseases

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

About this study

This study seeks to understand the genetic causes of conditions that affect the development of the genitals, such as differences of sex development (DSD) and hypospadias, and the impact on families of receiving genetic results. The investigators are recruiting individuals with DSD and/or hypospadias without a clear genetic cause along with their family members for our research study. The investigators will collect samples for genetic studies. The investigators will review the clinical record for history, labs and physical exam information. The investigators will return results of genetic testing to parents/guardians of children with DSD/hypospadias and have them complete questionnaires to assess the impact of receiving these results.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Genital or gonadal abnormalities as evidenced by physical examination or imaging (including but not limited to hypospadias, microphallus, clitoromegaly, ambiguous genitalia), with no cause identified by standard clinical evaluation

Exclusion criteria

  • Inability to provide informed consent

Treatment and study plan

Return of Genetic Results

Genetic

The results of testing for genetic causes of DSD/hypospadias will be returned to parents of subjects who elect to receive these results.

Primary outcomes

  1. Decision Regret

    Time frame: 3 months after return of genetic results

    Score on Decision Regret Scale

Secondary outcomes

  1. Parenting-Related Stress

    Time frame: 3 months after return of genetic results compared to baseline

    Score on Parenting Stress Index

  2. Child Health-Related Stress

    Time frame: 3 months after return of genetic results compared to baseline

    Score on Child Health Worry Scale

  3. Anxiety

    Time frame: 3 months after return of genetic results compared to baseline

    Score on Generalized Anxiety Disorder-7

  4. Depression

    Time frame: 3 months after return of genetic results compared to baseline

    Score on Patient Health Questionnaire-9

  5. Partner Relationship

    Time frame: 3 months after return of genetic results compared to baseline

    Score on Kansas Marital Satisfaction Scale

  6. Partner Blame

    Time frame: 3 months after return of genetic results compared to baseline

    Score on this novel measure

  7. Stigma

    Time frame: baseline, 3 months after return of genetic results

    Score on Questionnaire, "Stigma Related to Having a Child with a Urogenital Condition"

  8. Quality of Life score

    Time frame: baseline, 3 months after return of genetic results

    Score on Questionnaire, "Quality of Life Related to Having a Child with a Urogenital Condition"

Sponsors and collaborators

Lead sponsor

Boston Children's Hospital

Other

Registry information

Official study title

Utilizing Whole Exome Sequencing and Genomics to Improve Our Understanding of Differences of Sex Development (DSD) and Hypospadias

Important dates

Study start
2018
Primary completion
2027
Study completion
2027
First posted
Apr 5, 2017
Registry last updated
Jul 22, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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